AlphaFold predicted structure
CACNA1I · Q9P0X4
Mean pLDDT
59.7/ 100
Low
2,223 residues
Confidence breakdown
- Very high(≥ 90)13%
- Confident(70–90)34%
- Low(50–70)12%
- Very low(< 50)42%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CACNA1I
Chr 22q13.1calcium voltage-gated channel subunit alpha1 I
- Aliases:
- Cav3.3
- MANE:
- ENST00000402142.4
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
neurodevelopmental disorder with speech impairment and with or without seizures
0.63epilepsy
0.61neuropathic pain
0.60Seizure
0.60fibromyalgia
0.60restless legs syndrome
0.59postherpetic neuralgia
0.57anxiety disorder
0.57neuralgia
0.56Focal-onset seizure
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Voltage-dependent T-type calcium channel subunit alpha-1I
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H
Diseases associated with CACNA1I
Curated MONDO disease pages that list CACNA1I among their top associated genes.